SERPING1

serpin family G member 1

Summary

This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020]

Known Variants452 total

rsidPosition (GRCh37)AllelesClassClinVar
rs213530480411:57,365,055C/T—pathogenic
rs129103167511:57,365,057A/G—pathogenic
rs88604839711:57,365,113C/A—uncertain significance
rs105032046511:57,365,114C/T—likely benign
rs57801837911:57,365,118C/G—uncertain significance
rs86611546911:57,365,119C/G—uncertain significance
rs159082088111:57,365,122A/C—likely benign
rs119091108011:57,365,124C/G—uncertain significance
rs88604839811:57,365,162T/G—uncertain significance
rs76135097911:57,365,182A/T—uncertain significance
rs11229030011:57,365,194G/C—benign
rs249541886111:57,365,225G/A—likely benign
rs194530739111:57,365,567G/T—pathogenic
rs249542084711:57,365,719C/G—likely pathogenic
rs249542085211:57,365,721G/A—pathogenic
rs2836294411:57,365,723T/Csplice region variantbenign
rs156516889811:57,365,744A/C—pathogenic
rs249542094311:57,365,745T/G—pathogenic
rs18534263111:57,365,748C/T—conflicting classifications of pathogenicity
rs249542096411:57,365,749C/A—likely benign
rs135008009411:57,365,756C/T—likely benign
rs20145561611:57,365,768A/C—benign
rs139314510911:57,365,770C/A—likely benign
rs194531059211:57,365,774C/T—likely benign
rs249542109811:57,365,778T/G—likely pathogenic
rs19947371511:57,365,794G/C—likely benign
rs147012036511:57,365,795G/A—pathogenic
rs249542119711:57,365,797A/G—pathogenic
rs142772969011:57,365,798T/C—uncertain significance
rs155499466511:57,365,799G/T—likely pathogenic
rs249542123811:57,365,807T/G—likely benign
rs140318193511:57,365,813G/A—likely benign
rs2836294511:57,365,895A/G—benign
rs100551111:57,366,656C/T—benign
rs100551011:57,367,222C/Tintron variantbenign
rs56419941511:57,367,336G/A—benign
rs249542493311:57,367,343G/C—likely benign
rs102665780411:57,367,347C/T—conflicting classifications of pathogenicity
rs249542495411:57,367,350A/G—pathogenic
rs88604135311:57,367,351G/A—pathogenic
rs156516941911:57,367,355A/T—pathogenic
rs75095381911:57,367,359C/G—uncertain significance
rs95244137011:57,367,365C/T—uncertain significance
rs75162126111:57,367,386C/G—uncertain significance
rs249542511411:57,367,394C/G—uncertain significance
rs78144461111:57,367,400C/A—uncertain significance
rs1122906211:57,367,417C/G—conflicting classifications of pathogenicity
rs194532818411:57,367,421G/T—uncertain significance
rs13831564311:57,367,423C/T—likely benign
rs77862540811:57,367,424G/T—pathogenic
rs14957397211:57,367,429G/A—likely benign
rs14323150611:57,367,433G/T—likely benign
rs194532847211:57,367,434T/C—uncertain significance
rs88604839911:57,367,435C/T—uncertain significance
rs77518777711:57,367,436G/A—uncertain significance
rs249542526911:57,367,439A/G—uncertain significance
rs1154666111:57,367,442A/G—benign
rs18854206011:57,367,453C/T—likely benign
rs76686293711:57,367,455A/G—uncertain significance
rs194532893111:57,367,465C/T—likely benign
rs101062367311:57,367,466G/A—uncertain significance
rs1154666011:57,367,467T/Cmissense variantbenign
rs75299303611:57,367,469G/A—likely benign
rs19174364111:57,367,471A/G—likely benign
rs75733251811:57,367,488C/G—uncertain significance
rs138078315811:57,367,490A/G—uncertain significance
rs77896695611:57,367,491G/C—likely benign
rs77163796311:57,367,497C/T—uncertain significance
rs77484502411:57,367,498G/A—likely benign
rs37621816811:57,367,507C/T—likely benign
rs148466806311:57,367,510A/T—likely benign
rs14305901211:57,367,516C/G—likely benign
rs213530821211:57,367,521C/A—pathogenic
rs18277959111:57,367,527C/T—conflicting classifications of pathogenicity
rs213530822811:57,367,529A/T—pathogenic
rs77494441111:57,367,539C/G—uncertain significance
rs14740945011:57,367,544A/T—conflicting classifications of pathogenicity
rs77880362611:57,367,579G/A—likely benign
rs75040826411:57,367,583A/C—likely benign
rs13970202411:57,367,584C/T—likely benign
rs88604840011:57,367,585C/A—conflicting classifications of pathogenicity
rs194533147111:57,367,593C/T—uncertain significance
rs213530847711:57,367,603A/G—likely benign
rs37207839511:57,367,606C/T—likely benign
rs249542602811:57,367,609C/G—likely benign
rs78079983211:57,367,622C/T—pathogenic
rs137188784411:57,367,630A/G—conflicting classifications of pathogenicity
rs213530855011:57,367,646C/T—pathogenic
rs103586475011:57,367,648G/T—uncertain significance
rs20053471511:57,367,652A/G—benign
rs249542623911:57,367,656C/G—uncertain significance
rs146563771111:57,367,669C/G—uncertain significance
rs249542635811:57,367,690C/G—uncertain significance
rs37389535611:57,367,692C/G—uncertain significance
rs76446274611:57,367,696C/T—likely benign
rs213530865111:57,367,700G/T—pathogenic
rs36834014611:57,367,702G/A—likely benign
rs76209034911:57,367,704G/A—uncertain significance
rs104626721511:57,367,717G/A—likely benign
rs249542647311:57,367,719C/G—uncertain significance

Showing 100 of 452 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.